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Symptoms of thalassemia

Reviewed by medical experts · For informational purposes only

Introductory summary

Thalassemia symptoms range from none in carriers to severe anaemia, poor growth, bone changes and an enlarged spleen in thalassemia major appearing in infancy.

Symptoms of thalassemia

Thalassemia trait (carrier/minor): most carriers have no symptoms at all. Some have mild anaemia found on a routine blood count - often mistaken for iron deficiency - with occasional tiredness. Carriers live normal lives and need no treatment.

Thalassemia intermedia: moderate anaemia with tiredness, weakness, pale skin, and sometimes an enlarged spleen, slow growth or bone changes. Symptoms vary widely; some people are diagnosed only in adulthood.

Thalassemia major: symptoms appear in the first 6-24 months of life:

  • Severe, worsening anaemia - paleness, poor feeding, unusual tiredness
  • Poor growth and delayed development
  • Yellowing of the skin or eyes (jaundice) from red-cell breakdown
  • A swollen abdomen from an enlarged spleen and liver
  • Facial and skull bone changes over time - prominent cheekbones and forehead - from the bone marrow expanding to make more red cells
  • Dark urine, frequent infections

Symptoms of iron overload (in transfused patients): without chelation, years of transfusions deposit iron in organs, causing delayed puberty, diabetes, heart rhythm problems and heart failure, and liver disease. These emerge in the teens and twenties if iron is not controlled.

When to see a doctor: any child with persistent pallor, poor growth or a swollen belly needs blood testing. Any unexplained anaemia - especially if iron supplements have not helped - deserves a proper diagnosis rather than more iron.

Remember: carriers feel fine; babies with severe anaemia and poor growth need testing; unexplained anaemia deserves diagnosis before iron.

Ayurvedic view (interpretive)

Ayurveda links pallor and weakness to blood (rakta) deficiency - a general description, not a diagnosis. Haemoglobin testing and, when needed, haemoglobin electrophoresis/HPLC identify the real condition.

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